Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.R499C
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PCSK9

NM_174936.4:p.R499C

Associated Papers

Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing.

Razman AZ et al.

International Journal of Molecular Sciences, 2022

36499307 (PubMed )
Supplement: ijms-23-14971-s001.zip › ijms-1968050-supplementary.pdf

Cyclase-associated protein 1 is a binding partner of proprotein convertase subtilisin/kexin type-9 and is required for the degradation of low-density lipoprotein receptors by proprotein convertase subtilisin/kexin type-9.

Jang HD et al.

European Heart Journal, 2020

Detection of Familial Hypercholesterolemia Using Next Generation Sequencing in Two Population-Based Cohorts.

Kim HN et al.

Chonnam Medical Journal, 2018

Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels.

Lee CJ et al.

Plos One, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."